chr1:206773289:A>G Detail (hg38) (IL10, IL19)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:206,946,634-206,946,634 View the variant detail on this assembly version. |
hg38 | chr1:206,773,289-206,773,289 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | ||
Ensemble | ENST00000659065.2:c.-15+391T>C | |
ENST00000659642.2:c.-971T>C |
Type | Transcript | Protein |
---|---|---|
RefSeq | ||
Ensemble | ENST00000656872.2:c.-149+2459A>G | |
ENST00000659997.3:c.-149+2211A>G |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.340 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:[No Data.] |
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.006 | colorectal carcinoma | We found that rs1143634 in the interleukin-1β (IL1B) gene and rs1800871 in the i... | BeFree | 24557062 | Detail |
0.013 | colorectal cancer | We found that rs1143634 in the interleukin-1β (IL1B) gene and rs1800871 in the i... | BeFree | 24557062 | Detail |
<0.001 | aortic valve stenosis | Finally, rs1544410 polymorphism within the VDR gene, E2 and E4 alleles within th... | BeFree | 24903972 | Detail |
0.003 | aortic valve stenosis | Finally, rs1544410 polymorphism within the VDR gene, E2 and E4 alleles within th... | BeFree | 24903972 | Detail |
0.015 | leprosy | Significant associations (P < .05) were observed for 8 polymorphisms (rs18008... | BeFree | 21917900 | Detail |
0.003 | leprosy | Significant associations (P < .05) were observed for 8 polymorphisms (rs18008... | BeFree | 21917900 | Detail |
<0.001 | leprosy | Significant associations (P < .05) were observed for 8 polymorphisms (rs18008... | BeFree | 21917900 | Detail |
<0.001 | leprosy | Significant associations (P < .05) were observed for 8 polymorphisms (rs18008... | BeFree | 21917900 | Detail |
0.025 | Malignant neoplasm of lung | Bayesian correction for multiple comparisons suggests that chance is unlikely to... | BeFree | 20112337 | Detail |
<0.001 | Oropharyngeal disorders | Bayesian correction for multiple comparisons suggests that chance is unlikely to... | BeFree | 20112337 | Detail |
0.042 | Malignant neoplasm of lung | Bayesian correction for multiple comparisons suggests that chance is unlikely to... | BeFree | 20112337 | Detail |
<0.001 | breast carcinoma | To explore the association of NFKB1 c.-798_-795delATTG (rs28362491), NFKBIA c.-9... | BeFree | 25559835 | Detail |
0.003 | Malignant neoplasm of breast | To explore the association of NFKB1 c.-798_-795delATTG (rs28362491), NFKBIA c.-9... | BeFree | 25559835 | Detail |
<0.001 | Classical Hodgkin's Lymphoma | We investigated whether selected germline SNPs in IL10 (rs1800890, rs1800896, rs... | BeFree | 24008079 | Detail |
<0.001 | Classical Hodgkin's Lymphoma | We investigated whether selected germline SNPs in IL10 (rs1800890, rs1800896, rs... | BeFree | 24008079 | Detail |
<0.001 | Classical Hodgkin's Lymphoma | We investigated whether selected germline SNPs in IL10 (rs1800890, rs1800896, rs... | BeFree | 24008079 | Detail |
0.024 | lymphoma | Carriage of two copies of the 'low IL10' haplotype rs1800896_A/rs1800871_T/rs180... | BeFree | 20299965 | Detail |
<0.001 | Malignant neoplasm of oropharynx | After adjusting for age, education, ethnicity, gender, and tobacco smoking, IL10... | BeFree | 20112337 | Detail |
0.017 | Epstein-Barr Virus Infections | IL-10 rs1800871 (TC/CC) was associated with a reduced BC risk (OR, 0.74 [95% CI,... | BeFree | 22095765 | Detail |
<0.001 | Oropharyngeal Carcinoma | After adjusting for age, education, ethnicity, gender, and tobacco smoking, IL10... | BeFree | 20112337 | Detail |
0.009 | glioblastoma | In the genetic model analysis, the genotype TC of rs20541 in IL-13 gene showed a... | BeFree | 23663500 | Detail |
0.009 | hepatitis B | This was a retrospective cohort study.We genotyped seven SNPs in the following g... | BeFree | 25376093 | Detail |
0.003 | Carcinoma of lung | After adjusting for age, education, ethnicity, gender, and tobacco smoking, IL10... | BeFree | 20112337 | Detail |
0.011 | hepatitis B | This was a retrospective cohort study.We genotyped seven SNPs in the following g... | BeFree | 25376093 | Detail |
0.017 | Diabetic Nephropathy | These included genetic variants within or near VEGFA, CCR5, CCL2, IL-1, MMP9, EP... | BeFree | 25280384 | Detail |
0.376 | Behcet Syndrome | Genome-wide association studies identify IL23R-IL12RB2 and IL10 as Behçet's dise... | GWASCAT | 20622879 | Detail |
0.376 | Behcet Syndrome | [Genome-wide association studies identify IL23R-IL12RB2 and IL10 as Behcet\'s di... | GAD | 20622879 | Detail |
<0.001 | glioblastoma | In the genetic model analysis, the genotype TC of rs20541 in IL-13 gene showed a... | BeFree | 23663500 | Detail |
0.007 | breast carcinoma | Effects of interleukin-10 polymorphisms (rs1800896, rs1800871, and rs1800872) on... | BeFree | 24720854 | Detail |
0.035 | Malignant neoplasm of breast | Effects of interleukin-10 polymorphisms (rs1800896, rs1800871, and rs1800872) on... | BeFree | 24720854 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_153758.5(IL19):c.-149+2211A>G AND Inflammatory bowel disease | ClinVar | Detail |
NM_153758.5(IL19):c.-149+2211A>G AND Leprosy, susceptibility to, 1 | ClinVar | Detail |
We found that rs1143634 in the interleukin-1β (IL1B) gene and rs1800871 in the interleukin-10 (IL10)... | DisGeNET | Detail |
We found that rs1143634 in the interleukin-1β (IL1B) gene and rs1800871 in the interleukin-10 (IL10)... | DisGeNET | Detail |
Finally, rs1544410 polymorphism within the VDR gene, E2 and E4 alleles within the apoE gene, rs6254 ... | DisGeNET | Detail |
Finally, rs1544410 polymorphism within the VDR gene, E2 and E4 alleles within the apoE gene, rs6254 ... | DisGeNET | Detail |
Significant associations (P < .05) were observed for 8 polymorphisms (rs1800871, rs1800872, and r... | DisGeNET | Detail |
Significant associations (P < .05) were observed for 8 polymorphisms (rs1800871, rs1800872, and r... | DisGeNET | Detail |
Significant associations (P < .05) were observed for 8 polymorphisms (rs1800871, rs1800872, and r... | DisGeNET | Detail |
Significant associations (P < .05) were observed for 8 polymorphisms (rs1800871, rs1800872, and r... | DisGeNET | Detail |
Bayesian correction for multiple comparisons suggests that chance is unlikely to explain our finding... | DisGeNET | Detail |
Bayesian correction for multiple comparisons suggests that chance is unlikely to explain our finding... | DisGeNET | Detail |
Bayesian correction for multiple comparisons suggests that chance is unlikely to explain our finding... | DisGeNET | Detail |
To explore the association of NFKB1 c.-798_-795delATTG (rs28362491), NFKBIA c.-949C>T (rs2233406)... | DisGeNET | Detail |
To explore the association of NFKB1 c.-798_-795delATTG (rs28362491), NFKBIA c.-949C>T (rs2233406)... | DisGeNET | Detail |
We investigated whether selected germline SNPs in IL10 (rs1800890, rs1800896, rs1800871, rs1800872),... | DisGeNET | Detail |
We investigated whether selected germline SNPs in IL10 (rs1800890, rs1800896, rs1800871, rs1800872),... | DisGeNET | Detail |
We investigated whether selected germline SNPs in IL10 (rs1800890, rs1800896, rs1800871, rs1800872),... | DisGeNET | Detail |
Carriage of two copies of the 'low IL10' haplotype rs1800896_A/rs1800871_T/rs1800872_A was associate... | DisGeNET | Detail |
After adjusting for age, education, ethnicity, gender, and tobacco smoking, IL10 rs1800871 was inver... | DisGeNET | Detail |
IL-10 rs1800871 (TC/CC) was associated with a reduced BC risk (OR, 0.74 [95% CI, 0.55-1.00]) but had... | DisGeNET | Detail |
After adjusting for age, education, ethnicity, gender, and tobacco smoking, IL10 rs1800871 was inver... | DisGeNET | Detail |
In the genetic model analysis, the genotype TC of rs20541 in IL-13 gene showed an increased risk of ... | DisGeNET | Detail |
This was a retrospective cohort study.We genotyped seven SNPs in the following genes, interleukin (I... | DisGeNET | Detail |
After adjusting for age, education, ethnicity, gender, and tobacco smoking, IL10 rs1800871 was inver... | DisGeNET | Detail |
This was a retrospective cohort study.We genotyped seven SNPs in the following genes, interleukin (I... | DisGeNET | Detail |
These included genetic variants within or near VEGFA, CCR5, CCL2, IL-1, MMP9, EPO, IL-8, ADIPOQ and ... | DisGeNET | Detail |
Genome-wide association studies identify IL23R-IL12RB2 and IL10 as Behçet's disease susceptibility l... | DisGeNET | Detail |
[Genome-wide association studies identify IL23R-IL12RB2 and IL10 as Behcet\'s disease susceptibility... | DisGeNET | Detail |
In the genetic model analysis, the genotype TC of rs20541 in IL-13 gene showed an increased risk of ... | DisGeNET | Detail |
Effects of interleukin-10 polymorphisms (rs1800896, rs1800871, and rs1800872) on breast cancer risk:... | DisGeNET | Detail |
Effects of interleukin-10 polymorphisms (rs1800896, rs1800871, and rs1800872) on breast cancer risk:... | DisGeNET | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
---|
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs1800871 dbSNP
- Genome
- hg38
- Position
- chr1:206,773,289-206,773,289
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs1800871
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3396
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5691
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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